AI Article Synopsis

  • Hemoglobin (Hb) Malay is a common genetic disorder in Malaysia caused by a specific mutation, making it difficult to detect using standard laboratory techniques like capillary electrophoresis and high-performance liquid chromatography.
  • This study analyzed samples from 521 patients suspected of having β thalassemia over five years, successfully identifying 54 cases of Hb Malay with notable differences in blood parameters compared to typical β thalassemia carriers.
  • The researchers recommend a new cutoff value for hemoglobin A (HbA) of ≤4.6% to help confirm Hb Malay carrier status, noting that those with Hb Malay may have a different clinical presentation than classical β° thalassemia carriers.

Article Abstract

Hemoglobin (Hb) Malay is a common β hemoglobinopathy in Malaysia caused by A > G mutation in codon 19 leading to β+-thalassemia phenotype. However, screening for Hb Malay is challenging as it is undetectable by routine capillary electrophoresis (CE) or high-performance liquid chromatograpy (HPLC) methods. This study aimed to determine the Hb Malay phenotypes. The study was done on 521 cases with presumed β thalassemia from UKMMC and Hospital Selayang as well as confirmed Hb Malay cases from Hospital Sultanah Bahiyah, Kedah in over a 5-year period. Hb analysis using CE or HPLC followed by multiplex amplification refractory mutation system polymerase chain reaction and DNA sequencing were performed. Significant differences in mean values of haematological parameters among Hb Malay carriers against β thalassemia carriers were determined using one-way ANOVA and ROC analysis. A total of 482/521 cases of β globin mutations were identified. Among these, 54 Hb Malay cases were identified whereby 21 Hb Malay cases were from UKMMC and Hospital Selayang whilst 33 Hb Malay cases were from Hospital Sultanah Bahiyah, Kedah. Fifty-two were Hb Malay carriers whereas two cases were compound heterozygotes. The mean hemoglobin, mean cell volume, mean cell hemoglobin, and HbA of Hb Malay carriers were significantly higher than β° thalassemia carriers. The HbA range of Hb Malay carriers was wider (3.5-5.5%) with median value of 3.9%. A new HbA cutoff value ≤4.6% (AUC 0.717,  < 0.001) was proposed. Compound heterozygous Hb Malay/IVS1-5(G > C) showed transfusion-dependent thalassemia phenotype. Hb Malay carriers have different red cell and electrophoretic parameters than classical β° thalassemia carriers with wider HbA range. HbA of ≤4.6% should prompt a molecular confirmation for Hb Malay carrier status.

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Source
http://dx.doi.org/10.1080/03630269.2024.2380873DOI Listing

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